These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

108 related articles for article (PubMed ID: 29362193)

  • 21. No mutation of elastin and fibulin-5 genes in a patient with acquired cutis laxa associated with chronic urticaria.
    Sun XK; Chen JF
    Br J Dermatol; 2011 Jan; 164(1):215-7. PubMed ID: 20849517
    [No Abstract]   [Full Text] [Related]  

  • 22. Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
    Callewaert B; Su CT; Van Damme T; Vlummens P; Malfait F; Vanakker O; Schulz B; Mac Neal M; Davis EC; Lee JG; Salhi A; Unger S; Heimdal K; De Almeida S; Kornak U; Gaspar H; Bresson JL; Prescott K; Gosendi ME; Mansour S; Piérard GE; Madan-Khetarpal S; Sciurba FC; Symoens S; Coucke PJ; Van Maldergem L; Urban Z; De Paepe A
    Hum Mutat; 2013 Jan; 34(1):111-21. PubMed ID: 22829427
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
    Hu Q; Loeys BL; Coucke PJ; De Paepe A; Mecham RP; Choi J; Davis EC; Urban Z
    Hum Mol Genet; 2006 Dec; 15(23):3379-86. PubMed ID: 17035250
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
    Markova D; Zou Y; Ringpfeil F; Sasaki T; Kostka G; Timpl R; Uitto J; Chu ML
    Am J Hum Genet; 2003 Apr; 72(4):998-1004. PubMed ID: 12618961
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Role of Thrombospondin-1 in Mechanotransduction and Development of Thoracic Aortic Aneurysm in Mouse and Humans.
    Yamashiro Y; Thang BQ; Shin SJ; Lino CA; Nakamura T; Kim J; Sugiyama K; Tokunaga C; Sakamoto H; Osaka M; Davis EC; Wagenseil JE; Hiramatsu Y; Yanagisawa H
    Circ Res; 2018 Aug; 123(6):660-672. PubMed ID: 30355232
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Autosomal recessive form of congenital cutis laxa: more than the clinical appearance.
    Andiran N; Sarikayalar F; Saraçlar M; Cağlar M
    Pediatr Dermatol; 2002; 19(5):412-4. PubMed ID: 12383097
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Cutis laxa of the autosomal recessive type in a consanguineous family.
    de Schepper S; Loeys B; de Paepe A; Lambert J; Naeyaert JM
    Eur J Dermatol; 2003; 13(6):529-33. PubMed ID: 14721770
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Cutis Laxa.
    Mohamed M; Voet M; Gardeitchik T; Morava E
    Adv Exp Med Biol; 2014; 802():161-84. PubMed ID: 24443027
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Multimodality imaging reveals a gradual increase in matrix metalloproteinase activity at aneurysmal lesions in live fibulin-4 mice.
    Kaijzel EL; van Heijningen PM; Wielopolski PA; Vermeij M; Koning GA; van Cappellen WA; Que I; Chan A; Dijkstra J; Ramnath NW; Hawinkels LJ; Bernsen MR; Löwik CW; Essers J
    Circ Cardiovasc Imaging; 2010 Sep; 3(5):567-77. PubMed ID: 20592247
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.
    Scherrer DZ; Alexandrino F; Cintra ML; Sartorato EL; Steiner CE
    Am J Med Genet A; 2008 Nov; 146A(21):2740-5. PubMed ID: 18819152
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case.
    Debret R; Cenizo V; Aimond G; André V; Devillers M; Rouvet I; Mégarbané A; Damour O; Sommer P
    J Invest Dermatol; 2010 Nov; 130(11):2594-601. PubMed ID: 20613779
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.
    Al-Hassnan ZN; Almesned AR; Tulbah S; Hakami A; Al-Omrani A; Al Sehly A; Mohammed S; Majid S; Meyer B; Al-Fayyadh M
    Am J Cardiol; 2012 Jun; 109(11):1677-80. PubMed ID: 22440127
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Giant Aortic Aneurysm in Child with Cutis Laxa Syndrome: Unusual Presentation, New Surgical Technique.
    Shamsaldeen Faden M; Ahmed Noaman N; Osman Osama OO; Elassal AA; Al-Ghamdi AM; Debis R
    Heart Surg Forum; 2021 Dec; 24(6):E1054-E1056. PubMed ID: 34962481
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Role of PAR1-Egr1 in the Initiation of Thoracic Aortic Aneurysm in Fbln4-Deficient Mice.
    Shin SJ; Hang HT; Thang BQ; Shimoda T; Sakamoto H; Osaka M; Hiramatsu Y; Yamashiro Y; Yanagisawa H
    Arterioscler Thromb Vasc Biol; 2020 Aug; 40(8):1905-1917. PubMed ID: 32580633
    [TBL] [Abstract][Full Text] [Related]  

  • 35. An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
    Mégarbané H; Florence J; Sass JO; Schwonbeck S; Foglio M; de Cid R; Cure S; Saker S; Mégarbané A; Fischer J
    J Invest Dermatol; 2009 Jul; 129(7):1650-5. PubMed ID: 19194475
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Pathological Fracture in Autosomal Recessive Cutis Laxa Type 2B.
    Tanigasalam V; Gupta S
    Indian J Pediatr; 2019 Nov; 86(11):1058. PubMed ID: 31054122
    [No Abstract]   [Full Text] [Related]  

  • 37. A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.
    Wopereis S; Morava E; Grünewald S; Mills PB; Winchester BG; Clayton P; Coucke P; Huijben KM; Wevers RA
    Biochim Biophys Acta; 2005 Jun; 1741(1-2):156-64. PubMed ID: 15955459
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.
    Jones RP; Ridley C; Jowitt TA; Wang MC; Howard M; Bobola N; Wang T; Bishop PN; Kielty CM; Baldock C; Lotery AJ; Trump D
    Invest Ophthalmol Vis Sci; 2010 May; 51(5):2356-62. PubMed ID: 20007835
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in
    Letard P; Schepers D; Albuisson J; Bruneval P; Spaggiari E; Van de Beek G; Khung-Savatovsky S; Belarbi N; Capri Y; Delezoide AL; Loeys B; Guimiot F
    Mol Syndromol; 2018 Jul; 9(4):190-196. PubMed ID: 30140196
    [No Abstract]   [Full Text] [Related]  

  • 40. A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
    Claus S; Fischer J; Mégarbané H; Mégarbané A; Jobard F; Debret R; Peyrol S; Saker S; Devillers M; Sommer P; Damour O
    J Invest Dermatol; 2008 Jun; 128(6):1442-50. PubMed ID: 18185537
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.